Varaico: Literature-Extracted Genetic Variants

Gene:PAFAH1B1
Variant:p.F31S
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PAFAH1B1

NM_000430.4:p.F31S

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Grb2

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Grb2

Microtubule-binding-induced allostery triggers LIS1 dissociation from dynein prior to cargo transport.

Ton WD et al.

Nature Structural & Molecular Biology, 2023

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

Structural Consequence of Non-Synonymous Single-Nucleotide Variants in the N-Terminal Domain of LIS1.

Choi HJ et al.

International Journal of Molecular Sciences, 2022

Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.

Friocourt G et al.

Acta Neuropathologica, 2011

Functional interplay between LIS1, NDE1 and NDEL1 in dynein-dependent organelle positioning.

Lam C et al.

Journal of Cell Science, 2010

The dimerization mechanism of LIS1 and its implication for proteins containing the LisH motif.

Mateja A et al.

Journal of Molecular Biology, 2006

Novel functional features of the Lis-H domain: role in protein dimerization, half-life and cellular localization.

Gerlitz G et al.

Cell Cycle (georgetown, Tex.), 2005

Missense mutations resulting in type 1 lissencephaly.

Reiner O et al.

Cellular and Molecular Life Sciences : Cmls, 2005

The structure of the N-terminal domain of the product of the lissencephaly gene Lis1 and its functional implications.

Kim MH et al.

Structure (london, England : 1993), 2004

LIS1 missense mutations: variable phenotypes result from unpredictable alterations in biochemical and cellular properties.

Caspi M et al.

The Journal of Biological Chemistry, 2003

Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).

Cardoso C et al.

Human Mutation, 2002

A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration.

Emes RD et al.

Human Molecular Genetics, 2001

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.

Cardoso C et al.

Human Molecular Genetics, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."